|
Document Type |
: |
Article In Journal |
|
Document Title |
: |
Mitochondrial cytopathy presenting with features of Gitelman’s syndrome Mitochondrial cytopathy presenting with features of Gitelman’s syndrome |
|
Document Language |
: |
English |
|
Abstract |
: |
Mitochondria are essential for the homeostasis of
every cell except red blood cells.1 Therefore,
mitochondrial disorders cause a wide range of clinical
presentations; however, organs with higher aerobic
metabolism tend to be more severely affected.1 These
symptoms, although severe, can be non-specific.
Gitelman syndrome (GS) is a primary renal tubular
disorder with hypokalemic metabolic alkalosis,
hypocalciuria, and magnesium deficiency.2 Gitelman
et al described it in 1966, in 3 female patients, 22-
47 years old. It is more typical of adults and age at
presentation is usually 5 years or more. Failure to thrive
and short stature has been described occasionally,
and it could be included as an association.3 However,
recently 3 cases of GS and growth hormone (GH)
deficiency were reported,4,5 and considered as a new
phenotype of GS with a new complex hereditary
renal-tubular-pituitary syndrome.5 We report another
case of GS that was associated with GH deficiency,
partial adrenocortical hormone (ACTH) deficiency,
and mitochondrial encephalopathy |
|
ISSN |
: |
1658-3183 |
|
Journal Name |
: |
Neurosciences |
|
Volume |
: |
11 |
|
Issue Number |
: |
2 |
|
Publishing Year |
: |
1426 AH
2006 AD |
|
Article Type |
: |
Short Note |
|
Added Date |
: |
Wednesday, April 9, 2008 |
|
Researchers
| جميلة قاري | Kari, Jameela | Investigator | Doctorate | |
| حماد الشايع | Alshaya, Hammad | Researcher | Doctorate | |
| محمد جان | Jan, Mohammed | Researcher | Doctorate | |
| عبدالمعين الأغا | Al-Agha, AbdulMoein | Researcher | Doctorate | |
|
Files
|
Mitochond.pdf
| pdf | مشاهدة المقالة العلمية كاملة |
|